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    GLRX5 glutaredoxin 5 [ Homo sapiens (human) ]

    Gene ID: 51218, updated on 8-Jul-2021

    Summary

    Official Symbol
    GLRX5provided by HGNC
    Official Full Name
    glutaredoxin 5provided by HGNC
    Primary source
    HGNC:HGNC:20134
    See related
    Ensembl:ENSG00000182512 MIM:609588
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GRX5; PRSA; SIDBA3; SPAHGC; FLB4739; PR01238; PRO1238; C14orf87
    Summary
    This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 64.9), kidney (RPKM 37.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GLRX5 in Genome Data Viewer
    Location:
    14q32.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (95535050..95544714)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96001387..96011051)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268122 Neighboring gene CRISPRi-validated cis-regulatory element chr14.2067 Neighboring gene small Cajal body-specific RNA 13 Neighboring gene small nucleolar RNA host gene 10 Neighboring gene CRISPRi-validated cis-regulatory element chr14.2077 Neighboring gene long intergenic non-protein coding RNA 2318

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available
    Sideroblastic anemia 3, pyridoxine-refractory
    MedGen: C4225155 OMIM: 616860 GeneReviews: Not available
    Compare labs
    Spasticity, childhood-onset, with hyperglycinemia
    MedGen: C4225178 OMIM: 616859 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Treatment of diglutathionylated HIV-1 protease (positions 67 and 95) with thioltransferase (glutaredoxin) restores protease activity and generates an enzyme preparation that has 3- to 5-fold greater specific activity relative to the fully reduced form PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC14129

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2 iron, 2 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glutathione oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in [2Fe-2S] cluster assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein maturation by [2Fe-2S] cluster transfer IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein maturation by [4Fe-4S] cluster transfer IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    glutaredoxin-related protein 5, mitochondrial
    Names
    epididymis secretory sperm binding protein
    glutaredoxin 5 homolog
    monothiol glutaredoxin-5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021217.1 RefSeqGene

      Range
      5065..14729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016417.3NP_057501.2  glutaredoxin-related protein 5, mitochondrial precursor

      See identical proteins and their annotated locations for NP_057501.2

      Status: REVIEWED

      Source sequence(s)
      AI089763, BC047680, BI834047, BX248075
      Consensus CDS
      CCDS9936.1
      UniProtKB/Swiss-Prot
      Q86SX6
      Related
      ENSP00000328570.4, ENST00000331334.5
      Conserved Domains (1) summary
      cd03028
      Location:45135
      GRX_PICOT_like; Glutaredoxin (GRX) family, PKC-interacting cousin of TRX (PICOT)-like subfamily; composed of PICOT and GRX-PICOT-like proteins. The non-PICOT members of this family contain only the GRX-like domain, whereas PICOT contains an N-terminal TRX-like domain ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      95535050..95544714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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